Brasil S - Search Results

1

Protein misfolding diseases: Prospects of pharmacological treatment.

Gámez A, Yuste-Checa P, Brasil S, Briso-Montiano Á, Desviat LR, Ugarte M, Pérez-Cerdá C, Pérez B. Gámez A, et al. Among authors: brasil s. Clin Genet. 2018 Mar;93(3):450-458. doi: 10.1111/cge.13088. Epub 2017 Dec 4. Clin Genet. 2018. PMID: 28671287 Review.

2

Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency.

Brasil S, Viecelli HM, Meili D, Rassi A, Desviat LR, Pérez B, Ugarte M, Thöny B. Brasil S, et al. Hum Mutat. 2011 Sep;32(9):1019-27. doi: 10.1002/humu.21529. Epub 2011 Aug 4. Hum Mutat. 2011. PMID: 21542064

3

Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.

Jorge-Finnigan A, Brasil S, Underhaug J, Ruíz-Sala P, Merinero B, Banerjee R, Desviat LR, Ugarte M, Martinez A, Pérez B. Jorge-Finnigan A, et al. Among authors: brasil s. Hum Mol Genet. 2013 Sep 15;22(18):3680-9. doi: 10.1093/hmg/ddt217. Epub 2013 May 13. Hum Mol Genet. 2013. PMID: 23674520 Free PMC article.

4

Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies.

Brasil S, Richard E, Jorge-Finnigan A, Leal F, Merinero B, Banerjee R, Desviat LR, Ugarte M, Pérez B. Brasil S, et al. Clin Genet. 2015 Jun;87(6):576-81. doi: 10.1111/cge.12426. Epub 2014 Jun 6. Clin Genet. 2015. PMID: 24813872 Free PMC article.

5

The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

Yuste-Checa P, Gámez A, Brasil S, Desviat LR, Ugarte M, Pérez-Cerdá C, Pérez B. Yuste-Checa P, et al. Among authors: brasil s. Hum Mutat. 2015 Sep;36(9):851-60. doi: 10.1002/humu.22817. Epub 2015 Jul 23. Hum Mutat. 2015. PMID: 26014514 Free article.

6

Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.

Stojiljkovic M, Klaassen K, Djordjevic M, Sarajlija A, Brasil S, Kecman B, Grkovic S, Kostic J, Rodriguez-Pombo P, Desviat LR, Pavlovic S, Perez B. Stojiljkovic M, et al. Among authors: brasil s. Clin Genet. 2016 Sep;90(3):252-7. doi: 10.1111/cge.12751. Epub 2016 Mar 4. Clin Genet. 2016. PMID: 26830710

7

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.

Yuste-Checa P, Brasil S, Gámez A, Underhaug J, Desviat LR, Ugarte M, Pérez-Cerdá C, Martinez A, Pérez B. Yuste-Checa P, et al. Among authors: brasil s. Hum Mutat. 2017 Feb;38(2):160-168. doi: 10.1002/humu.23138. Epub 2016 Nov 21. Hum Mutat. 2017. PMID: 27774737

8

Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene.

Alonso-Barroso E, Brasil S, Briso-Montiano Á, Navarrete R, Pérez-Cerdá C, Ugarte M, Pérez B, Desviat LR, Richard E. Alonso-Barroso E, et al. Among authors: brasil s. Stem Cell Res. 2017 Aug;23:173-177. doi: 10.1016/j.scr.2017.07.021. Epub 2017 Jul 22. Stem Cell Res. 2017. PMID: 28925364 Free article.

9

New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type.

Brasil S, Briso-Montiano A, Gámez A, Underhaug J, Flydal MI, Desviat L, Merinero B, Ugarte M, Martinez A, Pérez B. Brasil S, et al. Biochim Biophys Acta Mol Basis Dis. 2018 Feb;1864(2):640-648. doi: 10.1016/j.bbadis.2017.11.024. Epub 2017 Dec 2. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 29197662 Free article. No abstract available.

10

Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type.

Richard E, Brasil S, Briso-Montiano A, Alonso-Barroso E, Gallardo ME, Merinero B, Ugarte M, Desviat LR, Pérez B. Richard E, et al. Among authors: brasil s. Stem Cell Res. 2018 May;29:143-147. doi: 10.1016/j.scr.2018.03.021. Epub 2018 Apr 5. Stem Cell Res. 2018. PMID: 29660608 Free article.

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